Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.Q40*

SPDL1

61 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachmen...

Pfam Domains

Spindlyaa 1–458UCSCSpindly

Gene Aliases

HGNC Name

spindle apparatus coiled-coil protein 1

HGNC Previous Symbol

CCDC99

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017785.5
p.Q40*
c.118C>T
Surrounding Variants
1 paper
NM_017785.5
p.L41S
c.122T>C
1 paper
NM_017785.5
p.N35_E36del1
c.105_107delTGA
1 paper
NM_017785.5
p.S33T
c.98G>C
1 paper
NM_017785.5
p.S33G
c.97A>G
1 paper
NM_017785.5
p.E32D
c.96G>T
1 paper
NM_017785.5
p.M48V
c.142A>G
1 paper
NM_017785.5
p.V31fs
c.91_92fs
1 paper
NM_017785.5
p.V31L
c.91G>T
1 paper
NM_017785.5
p.T50A
c.148A>G
1 paper
NM_017785.5
p.Q29delFs
c.87delA
1 paper
NM_017785.5
p.M51R
c.152T>G
1 paper
NM_017785.5
p.G27D
c.80G>A
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